Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1998 1
2001 1
2004 2
2005 3
2014 1
2018 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

7 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Hearing loss, autosomal recessive 116"
Page 1
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling WJ. Kelley PM, et al. Am J Hum Genet. 1998 Apr;62(4):792-9. doi: 10.1086/301807. Am J Hum Genet. 1998. PMID: 9529365 Free PMC article.
Data further supporting the finding that this mutation does not cause dominant hearing loss are presented. This allele was found in a recessive family segregating independently from the hearing-loss phenotype and in 3 of 192 control chromosomes. …
Data further supporting the finding that this mutation does not cause dominant hearing loss are presented. This allele was fou …
The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family.
Hofrichter MAH, Mojarad M, Doll J, Grimm C, Eslahi A, Hosseini NS, Rajati M, Müller T, Dittrich M, Maroofian R, Haaf T, Vona B. Hofrichter MAH, et al. BMC Med Genet. 2018 May 18;19(1):81. doi: 10.1186/s12881-018-0598-5. BMC Med Genet. 2018. PMID: 29776397 Free PMC article.
Only two reported pathogenic variants (c.323G>C, p.Arg108Pro and c.419A>G, p.Tyr140Cys) in the S1PR2 gene have previously been linked to autosomal recessive hearing loss (DFNB68) in two Pakistani families. ...This finding emphasizes the importanc …
Only two reported pathogenic variants (c.323G>C, p.Arg108Pro and c.419A>G, p.Tyr140Cys) in the S1PR2 gene have previously been linked …
An atypical form of erythrokeratodermia variabilis maps to chromosome 7q22.
Saba TG, Montpetit A, Verner A, Rioux P, Hudson TJ, Drouin R, Drouin CA. Saba TG, et al. Hum Genet. 2005 Feb;116(3):167-71. doi: 10.1007/s00439-004-1193-8. Epub 2004 Nov 25. Hum Genet. 2005. PMID: 15668823
Erythrokeratodermia variabilis 3 (Kamouraska type) or EKV3 is a newly described autosomal recessive disorder observed in patients from the Bas St-Laurent region of Quebec. ...EKV3 is also characterized by ichthyosis, sensorineural hearing loss, …
Erythrokeratodermia variabilis 3 (Kamouraska type) or EKV3 is a newly described autosomal recessive disorder observed i …
A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1.
Ramzan K, Shaikh RS, Ahmad J, Khan SN, Riazuddin S, Ahmed ZM, Friedman TB, Wilcox ER, Riazuddin S. Ramzan K, et al. Hum Genet. 2005 Jan;116(1-2):17-22. doi: 10.1007/s00439-004-1205-8. Epub 2004 Nov 6. Hum Genet. 2005. PMID: 15538632
Cosegregation of markers on chromosome 5q12.3-q14.1 with profound congenital deafness in two Pakistani families (PKDF041 and PKDF141) defines a new recessive deafness locus, DFNB49. A maximum two-point lod score of 4.44 and 5.94 at recombination fraction theta=0 was …
Cosegregation of markers on chromosome 5q12.3-q14.1 with profound congenital deafness in two Pakistani families (PKDF041 and PKDF141) define …
A common ancestral origin of the frequent and widespread 2299delG USH2A mutation.
Dreyer B, Tranebjaerg L, Brox V, Rosenberg T, Möller C, Beneyto M, Weston MD, Kimberling WJ, Cremers CW, Liu XZ, Nilssen O. Dreyer B, et al. Am J Hum Genet. 2001 Jul;69(1):228-34. doi: 10.1086/321269. Epub 2001 Jun 8. Am J Hum Genet. 2001. PMID: 11402400 Free PMC article.
Usher syndrome type IIa is an autosomal recessive disorder characterized by mild-to-severe hearing loss and progressive visual loss due to retinitis pigmentosa. ...On the basis of six single-nucleotide polymorphisms within the USH2A gene, 12 cor …
Usher syndrome type IIa is an autosomal recessive disorder characterized by mild-to-severe hearing loss and prog …
DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1.
Ahmad J, Khan SN, Khan SY, Ramzan K, Riazuddin S, Ahmed ZM, Wilcox ER, Friedman TB, Riazuddin S. Ahmad J, et al. Hum Genet. 2005 Apr;116(5):407-12. doi: 10.1007/s00439-004-1247-y. Epub 2005 Feb 12. Hum Genet. 2005. PMID: 15711797
Nonsyndromic deafness locus (DFNB48) segregating as an autosomal recessive trait has been mapped to the long arm of chromosome 15 in bands q23-q25.1 in five large Pakistani families. ...MYO9A, NR2E3, BBS4, and TMC3 are among the candidate genes in the DFNB48 region. …
Nonsyndromic deafness locus (DFNB48) segregating as an autosomal recessive trait has been mapped to the long arm of chromosome …
Central nervous system PET-CT imaging reveals regional impairments in pediatric patients with Wolfram syndrome.
Zmyslowska A, Malkowski B, Fendler W, Borowiec M, Antosik K, Gnys P, Baranska D, Mlynarski W. Zmyslowska A, et al. PLoS One. 2014 Dec 26;9(12):e115605. doi: 10.1371/journal.pone.0115605. eCollection 2014. PLoS One. 2014. PMID: 25542043 Free PMC article.
Wolfram syndrome (WFS) is inherited as an autosomal recessive disease with main clinical features of diabetes mellitus, optic atrophy, diabetes insipidus and deafness. ...Reduced SUVs in WFS patients as compared to the control group for the bilateral brain regions s …
Wolfram syndrome (WFS) is inherited as an autosomal recessive disease with main clinical features of diabetes mellitus, optic …